一种新的血红蛋白变异体导致的家族性红细胞增多症：血红蛋白希思罗，β103（G5）苯丙氨酸突变为亮氨酸。
Familial polycythaemia caused by a new haemoglobin variant: Hb Heathrow, beta 103 (G5) phenylalanine leads to leucine.
作者信息
White J M, Szur L, Gillies I D, Lorkin P A, Lehmann H
出版信息
Br Med J. 1973 Sep 29;3(5882):665-7. doi: 10.1136/bmj.3.5882.665.
Abstract
A new variant of haemoglobin A (Hb A) with a high affinity for oxygen has been found in an English family. Five members are affected and all are polycythaemic. This variant (Hb Heathrow) is the first of this class to be found in this country and has the same electrophoretic mobility as Hb A. It was discovered only by measuring the oxygen affinity of the patients' red cells. This emphasizes the need for measuring the oxygen affinity of haemoglobin in patients with polycythaemia if other clinical and haematological features associated with polycythaemia rubra vera are absent.
摘要
在一个英国家庭中发现了一种对氧气具有高亲和力的新型血红蛋白A（Hb A）变体。该家庭中有五名成员受影响，且均患有红细胞增多症。这种变体（Hb Heathrow）是在该国发现的此类变体中的首例，其电泳迁移率与Hb A相同。仅通过测量患者红细胞的氧亲和力才发现了它。这强调了在没有真性红细胞增多症相关的其他临床和血液学特征的情况下，对红细胞增多症患者测量血红蛋白氧亲和力的必要性。
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